Search Results - "GUTIERREZ RIOS, Purificacion"

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia by Ching-López, Ana, Martinez-Gonzalez, Luis Javier, Arrabal, Luisa, Sáiz, Jorge, Gavilán, Ángela, Barbas, Coral, Lorente, Jose Antonio, Roldán, Susana, Sánchez, Maria José, Gutierrez-Ríos, Purificacion

“…Ataxia in children is a common clinical sign of numerous neurological disorders consisting of impaired coordination of voluntary muscle movement. Its most…”
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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions by RONCHI, Dario, GARONE, Caterina, CORTI, Stefania, BRESOLIN, Nereo, MOOTHA, Vamsi K, MOGGIO, Maurizio, DIMAURO, Salvatore, COMI, Giacomo P, SCIACCO, Monica, BORDONI, Andreina, GUTIERREZ RIOS, Purificacion, CALVO, Sarah E, RIPOLONE, Michela, RANIERI, Michela, RIZZUTI, Mafalda, VILLA, Luisa, MAGRI, Francesca

“…The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are…”
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Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach by Leno-Durán, Ester, Arrabal, Luisa, Roldán, Susana, Medina, Inmaculada, Alcántara-Domínguez, Clara, García-Cabrera, Victor, Saiz, Jorge, Barbas, Coral, Sánchez, Maria José, Entrala-Bernal, Carmen, Fernández-Rosado, Francisco, Lorente, Jose Antonio, Gutierrez-Ríos, Purificacion, Martínez-Gonzalez, Luis Javier

“…This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with…”
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ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency by Vázquez-Fonseca, Luis, Schaefer, Jochen, Navas-Enamorado, Ignacio, Santos-Ocaña, Carlos, Hernández-Camacho, Juan D, Guerra, Ignacio, Cascajo, María V, Sánchez-Cuesta, Ana, Horvath, Zoltan, Siendones, Emilio, Jou, Cristina, Casado, Mercedes, Gutiérrez, Purificación, Brea-Calvo, Gloria, López-Lluch, Guillermo, Fernández-Ayala, Daniel J M, Cortés-Rodríguez, Ana B, Rodríguez-Aguilera, Juan C, Matté, Cristiane, Ribes, Antonia, Prieto-Soler, Sandra Y, Dominguez-Del-Toro, Eduardo, Francesco, Andrea di, Aon, Miguel A, Bernier, Michel, Salviati, Leonardo, Artuch, Rafael, Cabo, Rafael de, Jackson, Sandra, Navas, Plácido

“…Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading…”
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A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome by Emmanuele, Valentina, Sotiriou, Evangelia, Rios, Purificación Gutierrez, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, H. Orhan, DiMauro, Salvatore

“…Mutations in the mitochondrial DNA cytochrome b gene (MTCYB) have been commonly associated with isolated mitochondrial myopathy and exercise intolerance,…”
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TK2 MUTATION PRESENTING AS INDOLENT MYOPATHY by PARADAS, Carmen, GUTIERREZ RIOS, Purificacion, RIVAS, Eloy, CARBONELL, Pilar, HIRANO, Michio, DIMAURO, Salvatore

“…Recessive mutations in the TK2 gene typically cause fatal infantile mitochondrial DNA (mtDNA) depletion syndromes (MDS).(1-3) However, the progression of…”
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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency by Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

“…Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a…”
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TK2 Mutation Presenting as Indolent Myopathy (P07.026) by Paradas Lopez, Carmen, Gutierrez Rios, Purificacion, Rivas Infante, Eloy, Carbonell, Pilar, Hirano, Michio, DiMauro, Salvatore

“…Abstract only…”
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Life-long supplementation with a low dosage of coenzyme Q10 in the rat: Effects on antioxidant status and DNA damage by Quiles, José L., Ochoa, Julio J., Battino, Maurizio, Gutierrez-Rios, PurificaciÓN, Nepomuceno, Eduardo A., Frías, Magdalena LÓPez, Huertas, Jesús R., Mataix, JosÉ

“…Life‐long low‐dosage supplementation of coenzyme Q10 (CoQ10) is studied in relation to the antioxidant status and DNA damage. Thirty‐two male rats were…”
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A Novel Mutation in the Mitochondrial DNA Cytochrome B Gene (MTCYB) in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke like Episodes Syndrome (P02.088) by Emmanuele, Valentina, Sotiriou, Evangelia, Gutierrez Rios, Purificacion, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, Orhan, DiMauro, Salvatore

“…Abstract only…”
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Glycogen Breakdown Is Preserved during Exercise in Severe Muscle Phosphorylase B Kinase Deficiency (P07.029) by Sharp, Lydia, Heinicke, Katja, Ren, Jimin, Newby, Marta, Wyrick, Phil, Rice, Gregory, Akman, Orhan, Gutierrez Rios, Purificacion, DiMauro, Salvatore, Haller, Ronald

“…Abstract only…”
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Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene by Gutiérrez Ríos, Purificacion, Kalra, Arun A, Wilson, Jon D, Tanji, Kurenai, Akman, Hasan O, Area Gómez, Estela, Schon, Eric A, DiMauro, Salvatore

“…To describe the first American patient with a congenital muscle dystrophy characterized by the presence in muscle of gigantic mitochondria displaced to the…”
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Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature by Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, Vivo, Darryl C. De, DiMauro, Salvatore

“…We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of…”
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Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1 by Ferraris, Silvio, Clark, Susanna, Garelli, Emanuela, Davidzon, Guido, Moore, Steven A, Kardon, Randy H, Bienstock, Rachelle J, Longley, Matthew J, Mancuso, Michelangelo, Gutiérrez Ríos, Purificación, Hirano, Michio, Copeland, William C, DiMauro, Salvatore

“…To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory…”
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Life‐long supplementation with a low dosage of coenzyme Q 10 in the rat: Effects on antioxidant status and DNA damage by Quiles, José L., Ochoa, Julio J., Battino, Maurizio, Gutierrez‐Rios, PurificaciÓN, Nepomuceno, Eduardo A., Frías, Magdalena LÓPez, Huertas, Jesús R., Mataix, JosÉ

“…Abstract Life‐long low‐dosage supplementation of coenzyme Q 10 (CoQ 10 ) is studied in relation to the antioxidant status and DNA damage. Thirty‐two male rats…”
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Balanced CoQ 6 biosynthesis is required for lifespan and mitophagy in yeast by González-Mariscal, Isabel, Martín-Montalvo, Aléjandro, Ojeda-González, Cristina, Rodríguez-Eguren, Adolfo, Gutiérrez-Ríos, Purificación, Navas, Plácido, Santos-Ocaña, Carlos

“…Coenzyme Q is an essential lipid with redox capacity that is present in all organisms. In yeast its biosynthesis depends on a multiprotein complex in which…”
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Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast by Gonzalez-Mariscal, I., Martin-Montalvo, A., Ojeda-Gonzalez, C., Rodriguez-Eguren, A., Gutierrez-Rios, P., Navas, P., Santos-Ocana, C.

“…Coenzyme Q is an essential lipid with redox capacity that is present in all organisms. In yeast its biosynthesis depends on a multiprotein complex in which…”
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